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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIT1
(S128C +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(D126N +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+1 more
GUncertain significance
RIT1
(R105C +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(G95A +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic
RIT1
(M90V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
RIT1
(Y89H +2 more)
Single nucleotide variant
(missense variant)
RIT1-related condition
+3 more
GPathogenic
RIT1
(A84V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
RIT1
(T83P +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
RIT1
(F82L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+7 more
GPathogenic/Likely pathogenic
RIT1
(F82V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GPathogenic
RIT1
(F82L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GPathogenic
RIT1
(F82I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RIT1
(E81G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
RIT1
(E81Q +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
RIT1
(Q43E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
RIT1
(A77T +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+3 more
GPathogenic/Likely pathogenic
RIT1
(A57G +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GPathogenic
RIT1
(D15V +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GUncertain significance
RIT1
(D51Y +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GUncertain significance
RIT1
(H44L +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GLikely benign
RIT1
(T2N +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
GLikely pathogenic
RIT1
(S35T +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 8
+3 more
GPathogenic
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